Proportion of venous thromboembolism attributed to recognized prothrombotic genotypes in men and women
Arnesen, Carl-Arne; Evensen, Line Holtet; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Hansen, John Bjarne; Brækkan, Sigrid Kufaas
Journal article, Peer reviewed
Published version
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https://hdl.handle.net/11250/3143823Utgivelsesdato
2024Metadata
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Originalversjon
Research and Practice in Thrombosis and Haemostasis (RPTH). 2024, 8 (2), . 10.1016/j.rpth.2024.102343Sammendrag
Background
Data on the proportion of venous thromboembolism (VTE) risk attributed to prothrombotic genotypes in men and women are limited.
Objectives
We aimed to estimate the population attributable fraction (PAF) of VTE for recognized, common prothrombotic genotypes in men and women using a population-based case cohort.
Methods
Cases with incident VTE (n = 1493) and a randomly sampled subcohort (n = 13,069) were derived from the Tromsø study (1994-2012) and the Trøndelag Health Study (1995-2008) cohorts. DNA samples were genotyped for 17 single-nucleotide polymorphisms (SNPs) previously associated with VTE. PAFs with 95% bias-corrected CIs (based on 10,000 bootstrap samples) were estimated for SNPs significantly associated with VTE, and a 6-SNP cumulative model was constructed for both sexes.
Results
In women, the individual PAFs for SNPs included in the cumulative model were 16.9% for ABO (rs8176719), 17.6% for F11 (rs2036914), 15.1% for F11 (rs2289252), 8.7% for FVL (rs6025), 6.0% for FGG (rs2066865), and 0.2% for F2 (rs1799963). The cumulative PAF for this 6-SNP model was 37.8%. In men, the individual PAFs for SNPs included in the cumulative model were 21.3% for ABO, 12.2% for F11 (rs2036914), 10.4% for F11 (rs2289252), 7.5% for FVL, 7.8% for FGG, and 1.1% for F2. This resulted in a cumulative PAF in men of 51.9%.
Conclusion
Our findings in a Norwegian population suggest that 52% and 38% of the VTEs can be attributed to known prothrombotic genotypes in men and women, respectively.